Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
0.010 GeneticVariation BEFREE Here, we compare and contrast the gross and microscopic findings of cysts associated with cases of PDH and SCEH deficiencies with other neonatal cystic brain diseases including periventricular leukomalacia, neonatal Alexander disease, Canavan disease, and a case of cysts associated with a vascular abnormality. 31542992

2019

Entrez Id: 10763
Gene Symbol: NES
NES
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
0.010 Biomarker BEFREE The rats were incubated either in a regular normoxic chamber (control group) or in a hypoxic chamber (PVL group, 8% 02 and 92% N2 at 37°C) for 2 h. Nestin- and NeuN-positive neurons were detected by immunohistochemistry. 30804123

2019

Entrez Id: 4155
Gene Symbol: MBP
MBP
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
0.210 Biomarker BEFREE Myelination phenotype revealed by MBP immunostaining was not significantly affected in the p38α MAPK CKO mice compared to the wildtype after PVL induction. 29966722

2018

Entrez Id: 3569
Gene Symbol: IL6
IL6
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
0.050 AlteredExpression BEFREE IL-6 and IL-8 expression increased in PVL-treated explants but less than in control explants, which may indicate that other factors were responsible for glial activation and retinal apoptosis. 30400375

2018

Entrez Id: 3569
Gene Symbol: IL6
IL6
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
0.050 Biomarker BEFREE Independent risk factors for adverse outcomes were: i) IVH (n = 53): histologic chorioamnionitis, GA, fetal growth restriction, male sex, Hp switch-on; ii) PVL (n = 11): cord blood IL-6; iii) NEC (n = 25), GA; iv) BPD (n = 53): ventilator support, need for surfactant, GA; v) ROP (n = 79): ventilator support, Hp switch-on, GA; vi) fetal and neonatal death (n = 31): GA, amniotic fluid IL-6; vii) suspect EONS (n = 92): GA, Hp switch-on; viii) LOS (n = 81): GA. Our findings are applicable to pregnancies delivered between 23 and 34 weeks' gestation in the setting of IAI and PE, and suggest that GA and inflammatory intrauterine environment play key roles in occurrence of IVH, PVL, ROP, death, EONS and LOS. 30517142

2018

Entrez Id: 3569
Gene Symbol: IL6
IL6
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
0.050 AlteredExpression BEFREE IL-6 expression in retina increased and some microglial cells underwent apoptosis 4 h and 8 h after PVL infection, probably because of abnormal nitrotyrosine production in the retina. 29440661

2018

Entrez Id: 3576
Gene Symbol: CXCL8
CXCL8
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
0.010 AlteredExpression BEFREE IL-6 and IL-8 expression increased in PVL-treated explants but less than in control explants, which may indicate that other factors were responsible for glial activation and retinal apoptosis. 30400375

2018

Entrez Id: 54474
Gene Symbol: KRT20
KRT20
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
0.010 Biomarker BEFREE In addition, immunostaining for CD3 T cells and CD20 B cells was performed on postmortem preterm human infant brains with PVL. 29615958

2018

Entrez Id: 931
Gene Symbol: MS4A1
MS4A1
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
0.010 Biomarker BEFREE In addition, immunostaining for CD3 T cells and CD20 B cells was performed on postmortem preterm human infant brains with PVL. 29615958

2018

Entrez Id: 6657
Gene Symbol: SOX2
SOX2
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
0.010 Biomarker BEFREE Together, our genetic evidence reveals an essential role of Sox2 in brain myelination and CNS remyelination, and suggests that manipulation of Sox2 and/or Sox2-mediated downstream pathways may be therapeutic in promoting CNS myelin repair.<b>SIGNIFICANCE STATEMENT</b> Promoting myelin formation and repair has translational significance in treating myelin-related neurological disorders, such as periventricular leukomalacia and multiple sclerosis in which brain developmental myelin formation and myelin repair are severely affected, respectively. 29335358

2018

Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
0.010 Biomarker BEFREE Neurobehavioral analysis in the PVL mice model at P60 showed that the HI group had a significant decrease in hind limb strength, worsening rotarod testing and worsening performance in the open field test. 28406931

2017

Entrez Id: 8066
Gene Symbol: ANC
ANC
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
0.010 Biomarker BEFREE Moderate to low quality evidence indicates that exposure to ANC is associated with reduction in mortality and IVH/or PVL in neonates born before 25 weeks. 28486556

2017

Entrez Id: 115482683
Gene Symbol: H3P7
H3P7
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
0.010 Biomarker BEFREE Neurobehavioral analysis in the PVL mice model at P60 showed that the HI group had a significant decrease in hind limb strength, worsening rotarod testing and worsening performance in the open field test. 28406931

2017

Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
0.010 Biomarker BEFREE <b>Conclusion</b> Preterm infants with HRF exposed to antenatal steroids and pPROM had improved oxygenation with iNO and survival without severe IVH/PVL. 27627792

2017

Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
0.010 Biomarker BEFREE Neurobehavioral analysis in the PVL mice model at P60 showed that the HI group had a significant decrease in hind limb strength, worsening rotarod testing and worsening performance in the open field test. 28406931

2017

Entrez Id: 29997
Gene Symbol: NOP53
NOP53
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
0.010 Biomarker BEFREE Neurobehavioral analysis in the PVL mice model at P60 showed that the HI group had a significant decrease in hind limb strength, worsening rotarod testing and worsening performance in the open field test. 28406931

2017

Entrez Id: 3437
Gene Symbol: IFIT3
IFIT3
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
0.010 Biomarker BEFREE Neurobehavioral analysis in the PVL mice model at P60 showed that the HI group had a significant decrease in hind limb strength, worsening rotarod testing and worsening performance in the open field test. 28406931

2017

Entrez Id: 3239
Gene Symbol: HOXD13
HOXD13
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
0.010 Biomarker BEFREE Present study demonstrated a neuroprotective effect of SPD in a rat model of PVL. 27109442

2017

Entrez Id: 10963
Gene Symbol: STIP1
STIP1
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
0.010 Biomarker BEFREE Neurobehavioral analysis in the PVL mice model at P60 showed that the HI group had a significant decrease in hind limb strength, worsening rotarod testing and worsening performance in the open field test. 28406931

2017

Entrez Id: 7035
Gene Symbol: TFPI
TFPI
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
0.010 Biomarker BEFREE EPI who underwent DR-CPR had higher odds ratios (ORs (95% confidence interval)) for mortality compared to EPI not requiring DR-CPR (OR 3.32 (2.58, 4.29)), grades 3 to 4 intraventricular hemorrhage (IVH) (OR 1.59 (1.20, 2.10)) and periventricular leukomalacia (OR 1.81 (1.17, 2.82)). 28661514

2017

Entrez Id: 6441
Gene Symbol: SFTPD
SFTPD
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
0.010 Biomarker BEFREE We previously hypothesized that surfactant protein D (SPD) with its ability to bind toll-like receptors may have a possible ameliorating effect in PVL. 27109442

2017

Entrez Id: 7984
Gene Symbol: ARHGEF5
ARHGEF5
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
0.010 Biomarker BEFREE Neurobehavioral analysis in the PVL mice model at P60 showed that the HI group had a significant decrease in hind limb strength, worsening rotarod testing and worsening performance in the open field test. 28406931

2017

Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
0.010 Biomarker BEFREE These findings provide an animal model that reproduces the temporal and spatial specificities of PVL and indicate that damage to VEGF-dependent, immature periventricular vessels contributes to PVL development. 25689256

2015

Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
0.010 GeneticVariation BEFREE COL4A1 mutations disrupt the integrity of vascular basement membranes, so predisposing to a broad spectrum of disorders including periventricular leucomalacia, haemorrhagic stroke, aneurysm formation, epilepsy and developmental delay. 24864020

2014

Entrez Id: 4155
Gene Symbol: MBP
MBP
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
0.210 Biomarker RGD Protective effects of pentoxifylline on lipopolysaccharide-induced white matter injury in a rat model of periventricular leukomalasia. 23614640

2013